Smol Thomas, Dufour Annika, Tricot Sabine, Wemeau Mathieu, Stalnikiewicz Laure, Bernardi Franck, Terré Christine, Ducourneau Benoît, Bisiau Hervé, Daudignon Agnès
Service d'Hématologie-Immunologie-Cytogénétique, CH Valenciennes, Valenciennes, France.
Université de Lille Nord de France, Lille, France.
Mol Cytogenet. 2017 Jul 1;10:26. doi: 10.1186/s13039-017-0327-3. eCollection 2017.
Our aim was to set the FISH combination of del(17p13), t(4;14), 1q21 gain and del(1p32), four adverse cytogenetic factors rarely evaluated together, and compare our technical thresholds with those defined in the literature.
Two hundred thirty-three patients with MM at diagnosis were studied using FISH to target 4 unfavorable cytogenetic abnormalities: 17p13 deletion, t(4;14) translocation, 1p32 deletion and 1q21 gain. Technical thresholds were determined for each probe using isolated CD138-expressing PC from patients without MM.
The FISH analysis identified abnormalities in 79.0% of patients. Del(17p13) was detected in 15.0% of cases, t(4;14) in 11.5%, 1q21 gain in 37.8% and del(1p32) in 8.7%. Adding 1p32/1q21 FISH probes has enabled us to identify adverse cytogenetic profiles in 39.0% of patients without del(17p13) or t(4;14). Clonal heterogeneity was observed in 51.1% of patients as well as an increase in the number of adverse abnormalities when related clones were greater than or equal to 2 (85.1% against 45.6%).
FISH allowed detecting accumulation of adverse abnormalities and clonal heterogeneity in MM with a combination of 4 probes. The impacts of these two parameters need to be evaluated, and could be included in future cytogenetic classifications.
我们的目的是确定del(17p13)、t(4;14)、1q21增益和del(1p32)这四种很少一起评估的不良细胞遗传学因素的荧光原位杂交（FISH）组合，并将我们的技术阈值与文献中定义的阈值进行比较。
对233例初诊的多发性骨髓瘤（MM）患者进行研究，使用FISH检测4种不良细胞遗传学异常：17p13缺失、t(4;14)易位、1p32缺失和1q21增益。使用来自非MM患者的分离的表达CD138的浆细胞（PC）为每个探针确定技术阈值。
FISH分析在79.0%的患者中发现了异常。15.0%的病例检测到del(17p13)，11.5%检测到t(4;14)，37.8%检测到1q21增益，8.7%检测到del(1p32)。添加1p32/1q21 FISH探针使我们能够在39.0%没有del(17p13)或t(4;14)的患者中识别出不良细胞遗传学特征。51.1%的患者观察到克隆异质性，当相关克隆数大于或等于2时，不良异常数量增加（85.1%对45.6%）。
FISH使用4种探针的组合能够检测MM中不良异常的积累和克隆异质性。这两个参数的影响需要评估，并可纳入未来的细胞遗传学分类中。
